Publications (2)24.8 Total impact
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Article: Diagnostic value of fluorescence in situ hybridization for the detection of genomic aberrations in older patients with acute myeloid leukemia.
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ABSTRACT: Karyotype is one of the most important prognostic factors in acute myeloid leukemia (AML). To assess the diagnostic value of molecular cytogenetics in AML patients older than 60 years, we compared the results of chromosome banding with those of fluorescence in situ hybridization (FISH) applying a comprehensive DNA-probe set for the detection of the most relevant AML-associated chromosome aberrations in a prospective series of 283 patients registered for the multicenter treatment trial AML HD98-B. Four cases of inv(16)/t(16;16) and 2 cases of t(11q23) were only detected by FISH. Molecular cytogenetic analysis was also more sensitive for the detection of genomic imbalances, in particular 7q-, +11q, 17p-, and 20q-, but virtually all cases of aneuploidy or deletions that were missed on banding analysis were identified in patients without assessable metaphases, in patients with normal karyotypes but poor chromosome morphology, in patients with a leukemia-specific balanced rearrangement, or in patients with complex karyotypes. Our results support the use of FISH as a complementary method for the detection of inv(16)/t(16;16) and t(11q23) in all older AML patients eligible for intensive therapy. Molecular cytogenetics should also be considered in cases with insufficient yields of metaphase cells, poor chromosome morphology, or both. Routine screening for chromosomal imbalances by FISH does not improve cytogenetic risk assessment in patients with adequate pretreatment karyotype information.Haematologica 03/2005; 90(2):194-9. · 6.42 Impact Factor -
Article: Comparison of cytogenetic and molecular cytogenetic detection of chromosome abnormalities in 240 consecutive adult patients with acute myeloid leukemia.
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ABSTRACT: To prospectively compare cytogenetic and molecular cytogenetic analysis for the detection of the most relevant chromosome abnormalities in a large series of patients with acute myeloid leukemia (AML). Two hundred forty consecutive adult patients with AML entered onto the multicenter treatment trial AML HD93 were studied. Chromosome banding and fluorescence in situ hybridization (FISH) applying a comprehensive set of genomic DNA probes were performed in a single reference laboratory. Two cases of inv(16), three cases of t(11q23), and three cases of t(8;21)var were only detected by molecular cytogenetics. By FISH, aberrations were identified in three cases with normal karyotypes: inv(16), -Y (in a patient with low metaphase yield on chromosome banding) and a 12p microdeletion. Additional aneuploidies, in particular +8q and +11q, were diagnosed by FISH; however, virtually all these aberrations occurred in patients with complex karyotypes or as an additional abnormality in leukemias with an AML-specific translocation. Finally, aberrations were detected by FISH in eight of 14 patients with no assessable metaphases. In most cases of AML, conventional cytogenetic study reliably detects chromosomal abnormalities, and this method should not be replaced by FISH. FISH should be used as a complementary method for the detection of more subtle abnormalities, such as inv(16) and t(11q23), in all patients with newly diagnosed AML and for suspected t(8;21)var. Furthermore, molecular cytogenetics using this comprehensive set of DNA probes provides a valuable diagnostic tool for patients with poor chromosome morphology, low or no yields of metaphase cells, or both.Journal of Clinical Oncology 06/2002; 20(10):2480-5. · 18.37 Impact Factor
